- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2364)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2364)
- Increased circulating pyruvate concentration (HP:0003542): The concentration of pyruvate in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2364)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2364)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2364)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2364)
These phenotypes are associated with the disease Glycogen storage disease due to lactate dehydrogenase deficiency (ORPHA:2364).